Genetic and Metabolic Disorders — Flashcards

Impaired hearing is seen in all MPS except MPS _____

_____ disease is a mucopolysaccaridosis characterised by the _____ of hepatosplenomegaly and the preservation of intelligence.

Infant presenting with failure to thrive, steatorrhea, _____ in the peripheral smear is suggestive of _____.

_____ syndrome presents with _____-onset nephrotic syndrome, progressive renal insufficiency, _____ genitalia, and Wilms tumor.

Macroglossia and omphalocele present along with Wilm's tumor points to the diagnosis of _____ syndrome.

The curative treatment for Chediak Higashi syndrome is _____

_____ syndrome presents with _____-onset nephrotic syndrome, progressive renal insufficiency, _____ genitalia, and Wilms tumor.

In Duchenne muscular dystrophy, surveillance testing should include:_____, to monitor for arrhythmiaEchocardiography to screen for dilated cardiomyopathy_____ in sitting position

Infant presenting with failure to thrive, steatorrhea, _____ in the peripheral smear is suggestive of _____.